| Literature DB >> 15979036 |
Doug A Brooks1, Gary J Gibson, Litsa Karageorgos, Leanne K Hein, Evelyn F Robertson, John J Hopwood.
Abstract
Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, McKusick #253200) is a lysosomal storage disorder that is caused by a deficiency in the lysosomal exohydrolase N-acetylgalactosamine-4-sulphatase (4-sulphatase, EC 3.1.6.1). We report a patient with no obvious clinical signs of MPS VI that has 5% of normal 4-sulphatase catalytic capacity. This patient represents an index case for the attenuated end of the MPS VI clinical spectrum.Entities:
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Year: 2005 PMID： 15979036 DOI： 10.1016/j.ymgme.2005.02.008
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797